Pathophysiology of Cystic Fibrosis: Implications for Critical Care Nurses

CFTR, the gene associated with cystic fibrosis, encodes the protein cystic fibrosis transmembrane conductance regulator (also abbreviated CFTR, but not italicized). The gene was identified in 1989 and is found at 7q31.2, the long arm (q) of chromosome 7 at position 31.2. Survival has increased for patients with cystic fibrosis from late teens to mid-30s because of the many advances in diagnosis and treatment, and in some instances, lung transplantation. As a result, critical care nurses are increasingly likely to provide care for patients who have this disease.

More than 1000 possible changes can occur in CFTR to cause cystic fibrosis, but approximately 70% of all patients with cystic fibrosis have the same defect: F508.¹ This defect is a deletion of 3 bases that causes the loss of the protein phenylalanine.² Patients who have a complete loss of the CFTR gene have a clinical phenotype representative of pancreatic...